Hyper IgM syndrome: two mutations distinguish HIM.
نویسندگان
چکیده
منابع مشابه
Hyper-IgM syndrome: a case report.
Hyperimmunoglobulin M syndrome is a rare primary immunodeficiency disorder. We report a case of a 6-month-old boy who suffered from developmental delays, frequent respiratory tract infection, and unusual fungal and bacterial infection. X-linked hyperimmunoglobulin M syndrome was ultimately diagnosed with decreasing immunoglobulin-G, A, and E (immunoglobulin G = 51.3 mg/dL, immunoglobulin A = 8....
متن کاملHyper IgM syndrome presenting as chronic suppurative lung disease
The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination. Affected patients show humoral immunodeficiency and high susceptibility to opportunistic infections. Elevated serum IgM levels are the hallmark of the disease, even though in few rare cases they may be in the normal range. Hyper IgM is ass...
متن کاملHyper IgM syndrome with tuberculous osteomyelitis and scrofuloderma.
INDIAN PEDIATRICS 952 VOLUME 42__SEPTEMBER 17, 2005 Hyper IgM syndrome (HIGM) is a rare primary immunodeficiency characterized by low levels of serum IgA and IgG and a normal or increased levels of IgM due to a block in the B cell immunoglobulin switch from IgM to IgG(1). The estimated incidence is approximately 1 in 10,30,000 live births(2). Two types are described X linked hyper IgM (XHIM) an...
متن کاملhyper igm syndrome: a review of 3 cases
hyper igm syndrome (him sx) is a rare congenital primary immunodeficiency that affects males more than females (70%, x-iinked recessive), but there are reports of autosomal recessive and autosomal dominant inheritances. in this study, we review medical histories of 2 affected girls and one affected boy. our 3 cases fulfill clinical and laboratory criteria of this syndrome. their clinical signs ...
متن کاملHyper-IgM syndrome--a case report and a clinical perspective.
The authors describe the case of a 28-year-old woman, with a history of recurrent bacterial infections since childhood and multiple hospitalizations for pneumonia, with important pulmonary sequelae, including bronchiectasis which warranted the need to perform a left lobectomy and lingulectomia at age 13. After diagnostic work up, the diagnosis of hypogammaglobulinemia with hyper-IgM was establi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1994
ISSN: 0021-9738
DOI: 10.1172/jci117467